Therefore, cells have developed sophisticated ways to maintain a critical copper balance, with the intake, export, and intracellular compartmentalization or buffering of copper strictly regulated.

The 2 related genes ATP7A and ATP7B, responsible for the human diseases Menkes syndrome and Wilson disease, respectively, are involved in copper export.

[6] In 2022, a new autosomal-recessive disease was discovered that is caused by mutations of the CTR1 gene.

[7] The disease is characterized by profound deficiency of copper in the central nervous system and presents with infantile seizures and neurodegeneration.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.